title: Women and Alport syndrome.
abstract: X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous "carrier" females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors.
authors.affiliation: Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN, USA. rheau002@umn.edu
authors.forename: Michelle N
authors.initials: MN
authors.lastname: Rheault
mesh_terms: D000818:Animals; D024141:Collagen Type IV / Q000235:genetics*; D018450:Disease Progression; D046148:Donor Selection; D005260:Female; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016030:Kidney Transplantation; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D012737:Sex Factors
chemical_list: D024141:Collagen Type IV